HapScoreDB: a database of protein language model functional scores for haplotype-resolved protein sequences.

ABSTRACT: Deciphering the functional effects of genetic variants, especially those inherited together on the same haplotype, remains a major challenge in human genetics, where epistasis among co-occurring variants can further complicate interpretation. To address this, we present HapScoreDB, a database offering protein language model-derived scores for haplotype-resolved protein-coding sequences across all human transcript isoforms. Leveraging GENCODE and Ensembl annotations with phased variant data from the 1000 Genomes Project, HapScoreDB includes over 130 000 distinct protein haplotypes from >18 000 genes and 78 000 transcripts, encompassing over 94 000 coding variants. Fitness scores for each haplotype were computed using state-of-the-art protein language models. Preliminary analyses show that h

SUBMITTER: Mazza F 

PROVIDER: S-EPMC12807696 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature